Male carriers of Robertsonian (Rob) translocations can have fertility problems associated with low sperm counts and abnormal sperm morphology. In this study, spermatozoa from 14 Rob translocation carriers, seven der(13;14), two der(13;15), two der(14;15), two der(14;21) and one der(21;22), were tested by fluorescence in-situ hybridization (FISH) for the chromosomes involved, to study meiotic se...

OBJECTIVE To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes. DESIGN Retrospective study. SETTING Clinical IVF laboratory. PATIENT(S) Thirty-five couples with one partner carrying a chromosomal translocation. INTERVENTION(S) PGD of translocation after polar-body or embryo biopsy. MAIN OUTCOME MEASURE(S) Preg...

PURPOSE 45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this ka...

A Robertsonian translocation results in a metacentric chromosome produced by the fusion of two acrocentric chromosomes. Rb heterozygous mice frequently generate aneuploid gametes and embryos, providing a good model for studying meiotic nondisjunction. We intercrossed mice heterozygous for a (7.18) Robertsonian translocation and performed molecular genotyping of 1812 embryos from 364 litters wit...

This case report presents a coincidence of trisomy 18 and balanced Robertsonian translocation (13;14). Aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. In a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported IUGR (<3rd percentile) with normal amniotic fluid, bilateral choroid plexus cysts, ...